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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000539.2:p.[Thr1733_Tyr1736delinsAsnArgTyrLeu;Ser1738_Asn1762delinsLeuGlnValAspCysProAlaProProHisGlnAlaAlaProProAlaAspLeuArgGlySerArgLeuLeuGln] |
CA022111
NM_000548.5:c.5197dup
|